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Carrier Screening & Reproductive Health

Carrier Screening at King’s College Hospital

Carrier screening is a medical test that helps determine if a person carries a gene mutation that could be passed on to their children. Genes are like instructions that determine our traits and can sometimes have changes or mutations. While most gene mutations are harmless, some can cause genetic disorders.

During carrier screening, doctors check for specific gene mutations associated with certain genetic conditions, such as cystic fibrosis or sickle cell anemia. The purpose is to identify individuals who carry a single copy of a mutated gene, known as being a carrier, but who do not have the disorder themselves.

Being a carrier typically doesn’t cause any health problems, but if both parents are carriers for the same genetic condition, there is a risk that their child may inherit two copies of the mutated gene, leading to the disorder. Carrier screening helps individuals and couples make informed decisions about family planning, such as considering options like prenatal testing or assisted reproductive technologies to reduce the risk of passing on a genetic disorder to their children.

In simpler terms, carrier screening is a test to find out if you have a gene that could be passed on to your kids and potentially cause a genetic disorder. It helps people plan for their family’s health and make decisions to reduce the risk of having a child with a genetic condition.

Who will benefit from Carrier Screening

Carrier screening is recommended for all individuals who are planning to have children or who are currently pregnant. It is especially important for individuals and couples who have a family history of a genetic disorder, are part of an ethnic or racial group with a higher risk of certain genetic disorders, or have previously had a child with a genetic disorder.

Carrier screening can help identify whether someone is a carrier of a particular genetic disorder, even if they do not have any symptoms of the disorder themselves. This information can be helpful for individuals and couples who are planning to start a family or who are already pregnant. It can help them understand their risk of passing on a genetic disorder to their children and make informed decisions about their reproductive options.

What does Carrier Screening involve?

Carrier screening can be done before or during pregnancy, and there are several different types of tests available. The most common type of carrier screening is a blood test, which looks for changes or mutations in specific genes associated with certain genetic disorders.

Our specialist geneticist can help you decide which carrier screening test is right for you based on your personal and family medical history. The results of carrier screening can be complex, so it’s important to work with a geneticist, who is trained in interpreting and communicating genetic test results.

What happens if I test positive as a carrier?

If you test positive as a carrier of a genetic disorder, it does not mean that you or your children will definitely develop the disorder. However, it does mean that your children have a higher risk of inheriting the mutated gene and potentially developing the disorder.

Depending on the disorder and your personal circumstances, there may be options to reduce the risk of passing on a genetic disorder to your children. These options can include preimplantation genetic testing (PGT), which involves testing embryos created through in vitro fertilization (IVF) before they are implanted in the uterus, or prenatal diagnosis, which involves testing a developing fetus during pregnancy.

How do I book for Carrier Screening

If you are interested in learning more about Carrier Screening, contact us through the Call Centre and we will book your appointment with our clinical geneticist. Ideally, the test should be carried out by both parents; however, we offer the option for solo tests as well. It usually takes 4-5 weeks for the results to come back; once the results are in, you will be invited again so that the geneticist can help you decide further steps.

Carrier Screen Single Parent- 4,400 AED

Carrier Screening Both Parents- 6,870 AED

Non-Invasive Prenatal Testing (NIPT)

NIPT, is a type of non-invasive genetic screening test carried out during pregnancy, that analyzes baby’s DNA circulating in the mother’s bloodstream.

NIPT is primarily used to screen for certain chromosomal abnormalities in the fetus, including trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome). It can also screen for sex chromosome abnormalities and some other abnormalities which are listed below.

A blood sample is collected from the mum, typically between 9 and 10 weeks of pregnancy or later. The maternal blood sample contains fragments of DNA from the placenta, including fetal DNA. The DNA is analyzed to assess the relative amount of chromosomal material from the fetus, allowing for the detection of abnormalities.

Is NIPT accurate in diagnosing diseases?

NIPT is highly accurate in detecting common chromosomal abnormalities, with a high sensitivity and specificity. However, it is important to note that NIPT is a screening test, not a diagnostic test. Positive results from NIPT should be confirmed through diagnostic testing, such as amniocentesis or chorionic villus sampling. Additionally, NIPT does not screen for all genetic disorders or structural abnormalities in the fetus, and it does not replace a comprehensive prenatal assessment.

NIPT is often offered as an optional screening test to pregnant women at King’s, especially those considered to be at increased risk for chromosomal abnormalities. Factors such as maternal age, family history, abnormal ultrasound findings, or previous pregnancy with chromosomal abnormalities may influence the decision to undergo NIPT. Your gynecologist will discuss with you the benefits, limitations and implications of the test results and can help you decide if the test is right for you.

Extended NIPT Panel- AED 4,250

The NIPT Panel offered at King’s includes screening for the following diseases.

  • Down’s Syndrome
  • Edward’s Syndrome
  • Patau Syndrome
  • Turner Syndrome
  • Triploidy
  • Di George Syndrome
  • Angelman Syndrome
  • 1p36 Deletion Syndrome
  • Cri-du-chat Syndrome
  • Prader-Willi Syndrome

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